A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

TG Drivas; D Li; D Nair; JT Alaimo; M Alders; J Altmüller; Stefan Barakat; M Bebin; NL Bertsch; P Blackburn; A Blesson; Arjan Bouman; K Brockmann; D Brunelle; M Burmeister; G Cooper; T Denecke; A Dieux-Coeslier; H Dubbs; A Ferrer; D Gal; LE Bartik; LB Gunderson; L Hasadsri; M Jain; C Karimov; BA Keena; EW Klee; K Kloth; B Lace; M Macchiaiolo; JL Marcadier; JM Milunsky; MP Napier; XR Ortiz-Gonzalez; PN Pichurin; J Pinner; Z Powis; C Prasad; FC Radio; KJ Rasmussen; D Renaud; E Rush; C Saunders; D Selcen; AR Seman; D N Shinde; E Smith; S Smol; L Snijders Blok; JM Stoler; S Tang; M Tartaglia; ML Thompson; JM van de Kamp; Johnny Wang; D Weise; K Weiss; R Woitschach; B Wollnik; H Yan; E Zackai; G Zampino; PM Campeau; EJ Bhoj

doi:10.1038/s41431-020-0654-4

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

TG Drivas
, D Li
, D Nair
, JT Alaimo
, M Alders
, J Altmüller
, Stefan Barakat
, M Bebin
, NL Bertsch
, P Blackburn
, A Blesson
, Arjan Bouman
, K Brockmann
, D Brunelle
, M Burmeister
, G Cooper
, T Denecke
, A Dieux-Coeslier
, H Dubbs
, A Ferrer

D Gal, LE Bartik, LB Gunderson, L Hasadsri, M Jain, C Karimov, BA Keena, EW Klee, K Kloth, B Lace, M Macchiaiolo, JL Marcadier, JM Milunsky, MP Napier, XR Ortiz-Gonzalez, PN Pichurin, J Pinner, Z Powis, C Prasad, FC Radio, KJ Rasmussen, D Renaud, E Rush, C Saunders, D Selcen, AR Seman, D N Shinde, E Smith, S Smol, L Snijders Blok, JM Stoler, S Tang, M Tartaglia, ML Thompson, JM van de Kamp, Johnny Wang, D Weise, K Weiss, R Woitschach, B Wollnik, H Yan, E Zackai, G Zampino, PM Campeau, EJ Bhoj

Clinical Genetics

External organisation

Research output: Contribution to journal › Article › Academic › peer-review

38 Citations (Scopus)

Original language	English
Pages (from-to)	1422-1431
Number of pages	10
Journal	European Journal of Human Genetics
Volume	28
Issue number	10
DOIs	https://doi.org/10.1038/s41431-020-0654-4
Publication status	Published - 2020

Research programs

EMC MGC-02-96-01
EMC OR-01

Access to Document

10.1038/s41431-020-0654-4

http://hdl.handle.net/1765/127696

Cite this

Drivas, TG., Li, D., Nair, D., Alaimo, JT., Alders, M., Altmüller, J., Barakat, S., Bebin, M., Bertsch, NL., Blackburn, P., Blesson, A., Bouman, A., Brockmann, K., Brunelle, D., Burmeister, M., Cooper, G., Denecke, T., Dieux-Coeslier, A., Dubbs, H., ... Bhoj, EJ. (2020). A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. European Journal of Human Genetics, 28(10), 1422-1431. https://doi.org/10.1038/s41431-020-0654-4

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title = "A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome",

author = "TG Drivas and D Li and D Nair and JT Alaimo and M Alders and J Altm{\"u}ller and Stefan Barakat and M Bebin and NL Bertsch and P Blackburn and A Blesson and Arjan Bouman and K Brockmann and D Brunelle and M Burmeister and G Cooper and T Denecke and A Dieux-Coeslier and H Dubbs and A Ferrer and D Gal and LE Bartik and LB Gunderson and L Hasadsri and M Jain and C Karimov and BA Keena and EW Klee and K Kloth and B Lace and M Macchiaiolo and JL Marcadier and JM Milunsky and MP Napier and XR Ortiz-Gonzalez and PN Pichurin and J Pinner and Z Powis and C Prasad and FC Radio and KJ Rasmussen and D Renaud and E Rush and C Saunders and D Selcen and AR Seman and Shinde, \{D N\} and E Smith and S Smol and \{Snijders Blok\}, L and JM Stoler and S Tang and M Tartaglia and ML Thompson and \{van de Kamp\}, JM and Johnny Wang and D Weise and K Weiss and R Woitschach and B Wollnik and H Yan and E Zackai and G Zampino and PM Campeau and EJ Bhoj",

year = "2020",

doi = "10.1038/s41431-020-0654-4",

language = "English",

volume = "28",

pages = "1422--1431",

journal = "European Journal of Human Genetics",

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Drivas, TG, Li, D, Nair, D, Alaimo, JT, Alders, M, Altmüller, J, Barakat, S, Bebin, M, Bertsch, NL, Blackburn, P, Blesson, A, Bouman, A, Brockmann, K, Brunelle, D, Burmeister, M, Cooper, G, Denecke, T, Dieux-Coeslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, LE, Gunderson, LB, Hasadsri, L, Jain, M, Karimov, C, Keena, BA, Klee, EW, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, JL, Milunsky, JM, Napier, MP, Ortiz-Gonzalez, XR, Pichurin, PN, Pinner, J, Powis, Z, Prasad, C, Radio, FC, Rasmussen, KJ, Renaud, D, Rush, E, Saunders, C, Selcen, D, Seman, AR, Shinde, DN, Smith, E, Smol, S, Snijders Blok, L, Stoler, JM, Tang, S, Tartaglia, M, Thompson, ML, van de Kamp, JM, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E, Zampino, G, Campeau, PM & Bhoj, EJ 2020, 'A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431. https://doi.org/10.1038/s41431-020-0654-4

TY - JOUR

T1 - A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

AU - Drivas, TG

AU - Li, D

AU - Nair, D

AU - Alaimo, JT

AU - Alders, M

AU - Altmüller, J

AU - Barakat, Stefan

AU - Bebin, M

AU - Bertsch, NL

AU - Blackburn, P

AU - Blesson, A

AU - Bouman, Arjan

AU - Brockmann, K

AU - Brunelle, D

AU - Burmeister, M

AU - Cooper, G

AU - Denecke, T

AU - Dieux-Coeslier, A

AU - Dubbs, H

AU - Ferrer, A

AU - Gal, D

AU - Bartik, LE

AU - Gunderson, LB

AU - Hasadsri, L

AU - Jain, M

AU - Karimov, C

AU - Keena, BA

AU - Klee, EW

AU - Kloth, K

AU - Lace, B

AU - Macchiaiolo, M

AU - Marcadier, JL

AU - Milunsky, JM

AU - Napier, MP

AU - Ortiz-Gonzalez, XR

AU - Pichurin, PN

AU - Pinner, J

AU - Powis, Z

AU - Prasad, C

AU - Radio, FC

AU - Rasmussen, KJ

AU - Renaud, D

AU - Rush, E

AU - Saunders, C

AU - Selcen, D

AU - Seman, AR

AU - Shinde, D N

AU - Smith, E

AU - Smol, S

AU - Snijders Blok, L

AU - Stoler, JM

AU - Tang, S

AU - Tartaglia, M

AU - Thompson, ML

AU - van de Kamp, JM

AU - Wang, Johnny

AU - Weise, D

AU - Weiss, K

AU - Woitschach, R

AU - Wollnik, B

AU - Yan, H

AU - Zackai, E

AU - Zampino, G

AU - Campeau, PM

AU - Bhoj, EJ

PY - 2020

Y1 - 2020

U2 - 10.1038/s41431-020-0654-4

DO - 10.1038/s41431-020-0654-4

M3 - Article

C2 - 32483341

SN - 1018-4813

VL - 28

SP - 1422

EP - 1431

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -